Reprogenetics LLC, 3 Regent Street, Suite 301, Livingston, NJ 07039, USA.
Reprod Biomed Online. 2009 Oct;19(4):532-8. doi: 10.1016/j.rbmo.2009.05.002.
One of the most important factors in increasing the screening potential of preimplantation genetic diagnosis (PGD) for aneuploidy is to increase the number of chromosomes analysed. Inclusion of chromosomes 8, 14 and 20 to the standard set of chromosomes X, Y, 13, 15, 16, 17, 18, 21 and 22 allows the analysis of 12 chromosomes in three rounds of fluorescent in-situ hybridization (FISH) without decreasing the efficiency of the technique. Pregnancy rate was significantly increased when only embryos that had been diagnosed as normal for the 12 chromosomes analysed were transferred compared with transfer of embryos with any abnormality for chromosomes 8, 14 or 20 (P < 0.05). This study proves that the high efficiency and practical feasibility of FISH analysis of 12 chromosomes in PGD for aneuploidy is a superior approach than the standard nine-chromosome analysis in order to screen for abnormalities.
提高胚胎植入前遗传学诊断（PGD）对非整倍体筛查潜能的最重要因素之一是增加分析的染色体数量。在标准的 X、Y、13、15、16、17、18、21 和 22 染色体组中加入 8、14 和 20 号染色体，通过三轮荧光原位杂交（FISH）分析可实现 12 条染色体的分析，而不会降低该技术的效率。与转移染色体 8、14 或 20 存在任何异常的胚胎相比，仅将被诊断为分析的 12 条染色体正常的胚胎进行转移时，妊娠率显著增加（P < 0.05）。这项研究证明，在 PGD 中对非整倍体进行 12 条染色体的 FISH 分析具有高效和实用的可行性，是一种优于标准的 9 条染色体分析的方法，用于筛查异常。
